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UMS
MCID: ULN003
MIFTS: 57

Ulnar-Mammary Syndrome (UMS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ulnar-Mammary Syndrome

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MalaCards integrated aliases for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 56 12 52 58 73 36 29 13 54 6 43 15 71
Schinzel Syndrome 56 12 74 52 58
Ums 56 52 58 73
Pallister Ulnar-Mammary Syndrome 56 12 58
Ulnar-Mammary Syndrome of Pallister 52
Syndrome, Ulnar-Mammary 39

Characteristics:

Orphanet epidemiological data:

58
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Reproductive diseases Bone diseases Endocrine diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Ulnar-Mammary Syndrome

About this section
NIH Rare Diseases : 52 Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature , and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose. UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant . However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance . Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present. The exact prevalence of UMS is not currently known, but less than 150 cases have been reported in the medical literature to date.

MalaCards based summary : Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to ventricular septal defect and ankyloglossia with or without tooth anomalies. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box Transcription Factor 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include breast, heart and pituitary, and related phenotypes are abnormality of temperature regulation and aplasia/hypoplasia of the ulna

Disease Ontology : 12 A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has material basis in heterozygous mutation in the TBX3 gene.

OMIM : 56 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). (181450)

KEGG : 36 Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS.

UniProtKB/Swiss-Prot : 73 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia : 74 Ulnar-mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

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Related Diseases for Ulnar-Mammary Syndrome

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Diseases related to Ulnar-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 30.3 TBX5 TBX20 NKX2-5
2 ankyloglossia with or without tooth anomalies 30.2 TBX22 TBX19
3 tooth agenesis 28.7 TBX22 LEF1 FGF10 BMP4
4 heart septal defect 28.7 TBX5 TBX3 TBX20 TBX2 TBX18 TBX1
5 cleft palate, isolated 28.2 TBX5 TBX22 TBX10 TBX1 FGF10 BMP4
6 holt-oram syndrome 27.6 TBX5 TBX4 TBX3 TBX22 TBX20 TBX2
7 digeorge syndrome 26.8 TBX6 TBX5 TBX3 TBX22 TBX20 TBX2
8 ritscher-schinzel syndrome 1 12.7
9 ritscher-schinzel syndrome 2 12.6
10 ritscher-schinzel syndrome 12.4
11 limb-mammary syndrome 11.5
12 acrocallosal syndrome 11.4
13 mayer-rokitansky-kuster-hauser syndrome 10.4 TBX5 TBX3
14 hypoplastic right heart syndrome 10.3 TBX5 TBX20
15 chromosome 17q23.1-q23.2 deletion syndrome 10.3 TBX4 TBX2
16 heart, malformation of 10.3 TBX5 NKX2-5
17 inguinal hernia 10.2 TBX3 TBX2 TBX1
18 polydactyly, postaxial, type a1 10.2
19 cryptorchidism, unilateral or bilateral 10.2
20 polydactyly 10.2
21 growth hormone deficiency 10.2
22 charge syndrome 10.2 TBX5 TBX20 TBX1
23 hypogonadotropic hypogonadism 5 with or without anosmia 10.2 TBX5 NKX2-5
24 chromosome 22q11.2 duplication syndrome 10.2 TBX6 TBX1
25 pulmonary valve stenosis 10.1 TBX5 TBX2 NKX2-5
26 atrial septal defect 5 10.1 TBX5 TBX20 NKX2-5
27 atrial septal defect 4 10.1 TBX20 NKX2-5
28 char syndrome 10.1 TBX5 TBX20 NKX2-5
29 right atrial isomerism 10.1 TBX5 TBX20 NKX2-5
30 chromosomal deletion syndrome 10.1 TBX5 TBX1 NKX2-5
31 ebstein anomaly 10.1 TBX5 TBX20 NKX2-5
32 hypertelorism 10.1
33 alacrima, achalasia, and mental retardation syndrome 10.1
34 adult syndrome 10.1
35 breasts and/or nipples, aplasia or hypoplasia of, 1 10.1
36 hepatocellular carcinoma 10.1
37 cardiac arrhythmia 10.1
38 anus, imperforate 10.1
39 duane-radial ray syndrome 10.1
40 brachydactyly 10.1
41 hypogonadotropic hypogonadism 10.1
42 hypogonadism 10.1
43 pituitary hypoplasia 10.1
44 hypogonadotropism 10.1
45 bicornuate uterus 10.1
46 pulmonary valve disease 10.0 TBX5 NKX2-5
47 tricuspid atresia 10.0 TBX5 TBX20 TBX1 NKX2-5
48 sinoatrial node disease 10.0 TBX5 TBX3 TBX18 NKX2-5
49 patent ductus arteriosus 1 10.0 TBX5 TBX20 TBX1 NKX2-5
50 dextro-looped transposition of the great arteries 9.9 TBX5 NKX2-5

Graphical network of the top 20 diseases related to Ulnar-Mammary Syndrome:



Diseases related to Ulnar-Mammary Syndrome
Sources

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

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Human phenotypes related to Ulnar-Mammary Syndrome:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of temperature regulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004370
2 aplasia/hypoplasia of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0006495
3 absent axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002221
4 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
5 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
9 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
10 abnormality of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000130
11 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
12 hypoplastic nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002557
13 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
14 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
15 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
16 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
17 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
18 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
19 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
20 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
21 abnormality of the metacarpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0001163
22 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
23 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
24 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
25 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
26 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882
27 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
28 abnormality of the clavicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000889
29 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
30 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
31 absent hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004050
32 aplasia of the pectoralis major muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0009751
33 breast aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100783
34 abnormality of the humerus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003063
35 abnormality of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0002818
36 inguinal hernia 31 HP:0000023
37 abnormality of the fingernails 58 Very frequent (99-80%)
38 inverted nipples 31 HP:0003186
39 micropenis 31 HP:0000054
40 abnormality of finger 58 Very frequent (99-80%)
41 sparse lateral eyebrow 31 HP:0005338
42 hypoplasia of the ulna 31 HP:0003022
43 hypoplasia of the radius 31 HP:0002984
44 shawl scrotum 31 HP:0000049
45 hypoplastic scapulae 31 HP:0000882
46 short clavicles 31 HP:0000894
47 anal stenosis 31 HP:0002025
48 absent radius 31 HP:0003974
49 subglottic stenosis 31 HP:0001607
50 sparse axillary hair 31 HP:0002215

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Cardiovascular Heart:
ventricular septal defect
wolff-parkinson-white arrhythmia

Chest Breasts:
inverted nipples
breast hypoplasia
nipple hypoplasia

Head And Neck Teeth:
hypodontia
ectopic upper canines

Respiratory Larynx:
subglottic stenosis

Genitourinary Internal Genitalia Female:
imperforate hymen

Skeletal Hands:
postaxial polydactyly
absent 3rd, 4th, and 5th ulnar rays

Skeletal Limbs:
hypoplastic humerus
hypoplastic/absent/deformed ulna
hypoplastic/absent/deformed radius

Head And Neck Eyes:
scant lateral eyebrows

Skeletal Feet:
short fourth and fifth toes

Abdomen External Features:
inguinal hernia

Endocrine Features:
delayed puberty
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis
anal stenosis

Genitourinary External Genitalia Male:
shawl scrotum
small penis

Skin Nails Hair Hair:
sparse axillary hair

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Skin Nails Hair Skin:
axillary apocrine gland hypoplasia

Growth Height:
delayed growth

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapula
hypoplastic clavicle

Clinical features from OMIM:

181450

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
2 cardiovascular system MP:0005385 10.34 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX18
3 embryo MP:0005380 10.33 BMP4 FGF10 LEF1 NKX2-5 RBM19 TBX1
4 cellular MP:0005384 10.25 BMP4 FGF10 LEF1 NKX2-5 RBM19 TBX1
5 mortality/aging MP:0010768 10.25 BMP4 FGF10 LEF1 NKX2-5 RBM19 TBX1
6 craniofacial MP:0005382 10.24 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
7 digestive/alimentary MP:0005381 10.13 BMP4 FGF10 NKX2-5 TBX1 TBX10 TBX2
8 integument MP:0010771 10.1 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
9 limbs/digits/tail MP:0005371 10.07 BMP4 FGF10 LEF1 TBX1 TBX15 TBX2
10 muscle MP:0005369 9.91 BMP4 FGF10 NKX2-5 TBX1 TBX15 TBX18
11 nervous system MP:0003631 9.9 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
12 normal MP:0002873 9.7 BMP4 FGF10 NKX2-5 TBX1 TBX10 TBX2
13 skeleton MP:0005390 9.4 BMP4 FGF10 LEF1 TBX1 TBX15 TBX18
Sources

Drugs & Therapeutics for Ulnar-Mammary Syndrome

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of TBX3 in Human ES Cell Differentiation Unknown status NCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Sources

Genetic Tests for Ulnar-Mammary Syndrome

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Genetic tests related to Ulnar-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 29 TBX3
Sources

Anatomical Context for Ulnar-Mammary Syndrome

About this section

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

40
Breast, Heart, Pituitary, Bone, Uterus, Liver, Hypothalamus
Sources

Publications for Ulnar-Mammary Syndrome

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Articles related to Ulnar-Mammary Syndrome:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. 54 61 56 6
12668170 2002
2
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. 54 61 56 6
9207801 1997
3
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. 61 56 6
28145909 2017
4
Ulnar Mammary syndrome and TBX3: expanding the phenotype. 61 56 6
19938096 2009
5
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. 61 56 6
12116211 2002
6
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. 54 61 56
16896345 2006
7
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. 54 56
16892408 2006
8
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. 61 56
8923944 1996
9
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. 61 56
8595424 1995
10
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. 61 56
1481852 1992
11
Ulnar-mammary syndrome. 61 56
3430557 1987
12
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. 61 56
3621662 1987
13
The Schinzel syndrome in a mother and daughter. 61 56
6538465 1984
14
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. 61 56
991870 1976
15
Laryngeal web, congenital heart disease and low stature. A syndrome? 56
7247825 1981
16
Transcription factor Tbx3 is required for the specification of the atrioventricular conduction system. 54 61
18467625 2008
17
Tbx3 is a downstream target of the Wnt/beta-catenin pathway and a critical mediator of beta-catenin survival functions in liver cancer. 54 61
17283120 2007
18
Isl1Cre reveals a common Bmp pathway in heart and limb development. 54 61
16556916 2006
19
TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. 54 61
15289316 2004
20
Interactions between FGF and Wnt signals and Tbx3 gene expression in mammary gland initiation in mouse embryos. 54 61
15255957 2004
21
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. 54 61
12668638 2003
22
T-box genes in human disorders. 54 61
12668595 2003
23
Regulation of Tbx3 expression by anteroposterior signalling in vertebrate limb development. 54 61
12376101 2002
24
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. 54 61
12005433 2002
25
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. 54 61
11689487 2001
26
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. 54 61
10468588 1999
27
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. 54 61
10330342 1999
28
Isolation of a Drosophila T-box gene closely related to human TBX1. 54 61
9611267 1998
29
The roles and regulation of TBX3 in development and disease. 61
31669645 2020
30
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61
31953988 2020
31
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome. 61
30654152 2020
32
Ritscher-Schinzel Syndrome 61
31971710 2020
33
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61
31712251 2019
34
Loss of Tbx3 in murine neural crest reduces enteric glia and causes cleft palate, but does not influence heart development or bowel transit. 61
30292786 2018
35
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. 61
30550377 2018
36
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation. 61
29963074 2018
37
The T-Box transcription factor 3 in development and cancer. 61
28579578 2017
38
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 61
28555453 2017
39
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. 61
27491074 2016
40
Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes. 61
27722056 2016
41
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
24916641 2015
42
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. 61
25712599 2015
43
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. 61
25434475 2015
44
The T-Box factor TBX3 is important in S-phase and is regulated by c-Myc and cyclin A-CDK2. 61
26266831 2015
45
Short communication: Expression of T-box 2 and 3 in the bovine mammary gland. 61
24767885 2014
46
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. 61
24664963 2014
47
Ulnar mammary syndrome. 61
24679913 2014
48
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. 61
24675841 2014
49
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. 61
25328580 2014
50
Transcriptional repressor Tbx3 is required for the hormone-sensing cell lineage in mammary epithelium. 61
25343378 2014
Sources

Variations for Ulnar-Mammary Syndrome

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ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6 (show top 50) (show all 97) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX3 NM_005996.4(TBX3):c.227del (p.Ile76fs)deletion Pathogenic 7987 12:115120779-115120779 12:114682974-114682974
2 TBX3 NM_005996.4(TBX3):c.657+1G>CSNV Pathogenic 7988 12:115118683-115118683 12:114680878-114680878
3 TBX3 NM_005996.4(TBX3):c.817A>T (p.Lys273Ter)SNV Pathogenic 7989 rs104894376 12:115115449-115115449 12:114677644-114677644
4 TBX3 NM_005996.4(TBX3):c.88dup (p.Met30fs)duplication Pathogenic 7990 12:115120917-115120918 12:114683112-114683113
5 TBX3 NM_005996.4(TBX3):c.991C>T (p.Gln331Ter)SNV Pathogenic 31909 rs397514484 12:115114166-115114166 12:114676361-114676361
6 TBX3 NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter)SNV Pathogenic 417720 rs1060505020 12:115112257-115112257 12:114674452-114674452
7 TBX3 NM_005996.4(TBX3):c.1920_1921dup (p.Pro641fs)duplication Pathogenic 591004 rs1565858163 12:115109896-115109897 12:114672091-114672092
8 TBX3 NM_005996.4(TBX3):c.2004G>A (p.Ser668=)SNV Conflicting interpretations of pathogenicity 307354 rs139599654 12:115109814-115109814 12:114672009-114672009
9 TBX3 NM_005996.4(TBX3):c.1974C>T (p.Ala658=)SNV Conflicting interpretations of pathogenicity 288773 rs370307666 12:115109844-115109844 12:114672039-114672039
10 TBX3 NM_005996.4(TBX3):c.-895_-894TC[14]short repeat Conflicting interpretations of pathogenicity 307401 rs57078153 12:115121876-115121877 12:114684071-114684072
11 TBX3 NM_005996.4(TBX3):c.-895_-894TC[15]short repeat Uncertain significance 307407 rs57078153 12:115121876-115121877 12:114684071-114684072
12 TBX3 NM_005996.4(TBX3):c.-895_-894TC[18]short repeat Uncertain significance 307403 rs57078153 12:115121876-115121877 12:114684071-114684072
13 TBX3 NM_005996.4(TBX3):c.*1382G>CSNV Uncertain significance 307326 rs886049003 12:115108264-115108264 12:114670459-114670459
14 TBX3 NM_005996.4(TBX3):c.1656G>A (p.Gly552=)SNV Uncertain significance 307361 rs886049010 12:115112024-115112024 12:114674219-114674219
15 TBX3 NM_005996.4(TBX3):c.324G>A (p.Glu108=)SNV Uncertain significance 307376 rs367579046 12:115120682-115120682 12:114682877-114682877
16 TBX3 NM_005996.4(TBX3):c.-181deldeletion Uncertain significance 307381 rs886049013 12:115121186-115121186 12:114683381-114683381
17 TBX3 NM_005996.4(TBX3):c.-326G>TSNV Uncertain significance 307388 rs886049016 12:115121331-115121331 12:114683526-114683526
18 TBX3 NM_005996.4(TBX3):c.-378T>ASNV Uncertain significance 307391 rs886049017 12:115121383-115121383 12:114683578-114683578
19 TBX3 NM_005996.4(TBX3):c.-895_-894TC[11]short repeat Uncertain significance 307405 rs57078153 12:115121877-115121878 12:114684072-114684073
20 TBX3 NM_005996.4(TBX3):c.*471T>GSNV Uncertain significance 307340 rs746896090 12:115109175-115109175 12:114671370-114671370
21 TBX3 NM_005996.4(TBX3):c.-873_-872insTTinsertion Uncertain significance 307406 rs886049021 12:115121877-115121878 12:114684072-114684073
22 TBX3 NM_005996.4(TBX3):c.-895_-894TC[17]short repeat Uncertain significance 307402 rs57078153 12:115121876-115121877 12:114684071-114684072
23 TBX3 NM_005996.4(TBX3):c.*400_*403deldeletion Uncertain significance 307343 rs886049007 12:115109243-115109246 12:114671438-114671441
24 TBX3 NM_005996.4(TBX3):c.*529G>ASNV Uncertain significance 307339 rs886049006 12:115109117-115109117 12:114671312-114671312
25 TBX3 NM_005996.4(TBX3):c.*15C>GSNV Uncertain significance 307350 rs886049008 12:115109631-115109631 12:114671826-114671826
26 TBX3 NM_005996.4(TBX3):c.*1539deldeletion Uncertain significance 307324 rs886049002 12:115108107-115108107 12:114670302-114670302
27 TBX3 NM_005996.4(TBX3):c.*715C>GSNV Uncertain significance 307337 rs886049005 12:115108931-115108931 12:114671126-114671126
28 TBX3 NM_005996.4(TBX3):c.1790C>T (p.Ala597Val)SNV Uncertain significance 307357 rs200821102 12:115110028-115110028 12:114672223-114672223
29 TBX3 NM_005996.4(TBX3):c.-71A>GSNV Uncertain significance 307380 rs886049012 12:115121076-115121076 12:114683271-114683271
30 TBX3 NM_005996.4(TBX3):c.-392A>GSNV Uncertain significance 307392 rs886049018 12:115121397-115121397 12:114683592-114683592
31 TBX3 NM_005996.4(TBX3):c.-872_-871insTCCCTCinsertion Uncertain significance 307404 rs112192237 12:115121876-115121877 12:114684071-114684072
32 TBX3 NM_005996.4(TBX3):c.*14A>GSNV Uncertain significance 307351 rs886049009 12:115109632-115109632 12:114671827-114671827
33 TBX3 NM_005996.4(TBX3):c.1971G>A (p.Leu657=)SNV Uncertain significance 307355 rs757640161 12:115109847-115109847 12:114672042-114672042
34 TBX3 NM_005996.4(TBX3):c.263G>A (p.Arg88Lys)SNV Uncertain significance 307377 rs886049011 12:115120743-115120743 12:114682938-114682938
35 TBX3 NM_005996.4(TBX3):c.-183C>TSNV Uncertain significance 307382 rs886049014 12:115121188-115121188 12:114683383-114683383
36 TBX3 NM_005996.4(TBX3):c.-209G>ASNV Uncertain significance 307385 rs774475860 12:115121214-115121214 12:114683409-114683409
37 TBX3 NM_005996.4(TBX3):c.-331T>CSNV Uncertain significance 307389 rs562724016 12:115121336-115121336 12:114683531-114683531
38 TBX3 NM_005996.4(TBX3):c.-441C>GSNV Uncertain significance 307394 rs752801993 12:115121446-115121446 12:114683641-114683641
39 TBX3 NM_005996.4(TBX3):c.-568T>ASNV Uncertain significance 307397 rs557484451 12:115121573-115121573 12:114683768-114683768
40 TBX3 NM_005996.4(TBX3):c.1011C>T (p.Ala337=)SNV Uncertain significance 307370 rs745496316 12:115114146-115114146 12:114676341-114676341
41 TBX3 NM_005996.4(TBX3):c.*1181G>ASNV Uncertain significance 307333 rs886049004 12:115108465-115108465 12:114670660-114670660
42 TBX3 NM_005996.4(TBX3):c.*403_*404deldeletion Uncertain significance 307342 rs761090292 12:115109242-115109243 12:114671437-114671438
43 TBX3 NM_005996.4(TBX3):c.390-9G>ASNV Uncertain significance 307375 rs753151479 12:115118960-115118960 12:114681155-114681155
44 TBX3 NM_005996.4(TBX3):c.-275A>GSNV Uncertain significance 307387 rs886049015 12:115121280-115121280 12:114683475-114683475
45 TBX3 NM_005996.4(TBX3):c.-517_-514deldeletion Uncertain significance 307396 rs886049019 12:115121519-115121522 12:114683714-114683717
46 TBX3 NM_005996.4(TBX3):c.151G>A (p.Ala51Thr)SNV Uncertain significance 580223 rs1565862637 12:115120855-115120855 12:114683050-114683050
47 TBX3 NM_005996.4(TBX3):c.-591dupduplication Uncertain significance 307398 rs11356115 12:115121595-115121596 12:114683790-114683791
48 TBX3 NM_005996.4(TBX3):c.-910C>GSNV Uncertain significance 307408 rs886049022 12:115121915-115121915 12:114684110-114684110
49 TBX3 NM_005996.4(TBX3):c.-507G>TSNV Likely benign 307395 rs550481010 12:115121512-115121512 12:114683707-114683707
50 TBX3 NM_005996.4(TBX3):c.-29G>TSNV Likely benign 307379 rs56112787 12:115121034-115121034 12:114683229-114683229

UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

Sources

Expression for Ulnar-Mammary Syndrome

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Search GEO for disease gene expression data for Ulnar-Mammary Syndrome.
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Pathways for Ulnar-Mammary Syndrome

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Pathways related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 12.14 TBX6 TBX3 TBX1 LEF1 BMP4
2
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.07 TBX5 NKX2-5 LEF1 BMP4
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.48 TBX6 TBX5 NKX2-5 FGF10 BMP4
4
Cardiac Progenitor Differentiation 1
11.18 TBX5 TBX20 NKX2-5 BMP4
5
Heart Development 1
10.83 TBX5 TBX20 TBX2 TBX1 NKX2-5 FGF10
6
Cardiomyocyte Differentiation through BMP Receptors 63
10.71 NKX2-5 BMP4
Sources

GO Terms for Ulnar-Mammary Syndrome

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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.86 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
2 nuclear chromatin GO:0000790 9.44 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
3 protein-DNA complex GO:0032993 9.43 TBX5 NKX2-5 LEF1
4 Tle3-Aes complex GO:0070722 9.16 TBX18 TBX15

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.16 TBX3 TBX19 TBX10 TBX1 NKX2-5 LEF1
2 positive regulation of transcription, DNA-templated GO:0045893 10.11 TBX5 TBX3 TBX20 TBX1 NKX2-5 LEF1
3 negative regulation of transcription, DNA-templated GO:0045892 10.1 TBX3 TBX22 TBX20 TBX2 NKX2-5 LEF1
4 multicellular organism development GO:0007275 10.1 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
5 regulation of transcription, DNA-templated GO:0006355 10.1 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
6 positive regulation of cell proliferation GO:0008284 10.07 TBX3 TBX2 TBX1 NKX2-5 LEF1 FGF10
7 heart development GO:0007507 9.99 TBX5 TBX1 NKX2-5 BMP4
8 angiogenesis GO:0001525 9.98 TBX4 TBX1 FGF10 BMP4
9 cell fate specification GO:0001708 9.93 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
10 anatomical structure morphogenesis GO:0009653 9.89 TBX6 TBX19 TBX10
11 lung development GO:0030324 9.88 TBX5 TBX4 FGF10 BMP4
12 heart looping GO:0001947 9.88 TBX6 TBX3 TBX20 TBX2 TBX1 NKX2-5
13 positive regulation of transcription by RNA polymerase II GO:0045944 9.86 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
14 positive regulation of epithelial cell proliferation GO:0050679 9.85 TBX1 FGF10 BMP4
15 vasculogenesis GO:0001570 9.85 TBX6 TBX20 NKX2-5
16 odontogenesis of dentin-containing tooth GO:0042475 9.85 TBX1 LEF1 FGF10 BMP4
17 heart morphogenesis GO:0003007 9.85 TBX3 TBX2 TBX19 TBX1 NKX2-5
18 outflow tract morphogenesis GO:0003151 9.85 TBX3 TBX20 TBX2 TBX1 NKX2-5 BMP4
19 embryonic digit morphogenesis GO:0042733 9.84 TBX3 TBX2 BMP4
20 embryonic limb morphogenesis GO:0030326 9.84 TBX5 TBX4 LEF1 BMP4
21 outflow tract septum morphogenesis GO:0003148 9.83 TBX20 TBX2 TBX1 NKX2-5 BMP4
22 blood vessel development GO:0001568 9.82 TBX3 TBX1 BMP4
23 somitogenesis GO:0001756 9.82 TBX19 TBX18 LEF1
24 positive regulation of cardiac muscle cell proliferation GO:0060045 9.81 TBX5 TBX20 TBX2
25 mesoderm formation GO:0001707 9.81 TBX6 TBX19 BMP4
26 cardiac muscle cell differentiation GO:0055007 9.8 TBX5 TBX3 NKX2-5 BMP4
27 embryonic cranial skeleton morphogenesis GO:0048701 9.78 TBX15 TBX1 BMP4
28 embryonic heart tube development GO:0035050 9.78 TBX3 TBX20 TBX2 NKX2-5
29 pituitary gland development GO:0021983 9.77 TBX19 FGF10 BMP4
30 thyroid gland development GO:0030878 9.77 TBX1 NKX2-5 FGF10
31 limb morphogenesis GO:0035108 9.76 TBX4 TBX3 FGF10
32 atrial septum morphogenesis GO:0060413 9.74 TBX5 TBX20 NKX2-5
33 cellular senescence GO:0090398 9.73 TBX3 TBX2
34 negative regulation of myoblast differentiation GO:0045662 9.73 TBX3 BMP4
35 cardiac muscle tissue development GO:0048738 9.72 TBX2 NKX2-5
36 lung morphogenesis GO:0060425 9.72 FGF10 BMP4
37 morphogenesis of an epithelium GO:0002009 9.72 TBX5 TBX4
38 pharyngeal system development GO:0060037 9.72 TBX1 NKX2-5
39 endocardial cushion morphogenesis GO:0003203 9.71 TBX20 TBX2
40 epithelial tube branching involved in lung morphogenesis GO:0060441 9.71 FGF10 BMP4
41 cardiac septum development GO:0003279 9.71 TBX20 BMP4
42 aorta morphogenesis GO:0035909 9.71 TBX2 TBX1
43 cardiac muscle tissue morphogenesis GO:0055008 9.71 TBX20 NKX2-5
44 smooth muscle cell differentiation GO:0051145 9.7 FGF10 BMP4
45 cardiac right ventricle morphogenesis GO:0003215 9.7 TBX20 BMP4
46 mesonephros development GO:0001823 9.7 FGF10 BMP4
47 endocardial cushion development GO:0003197 9.7 TBX5 BMP4
48 renal system development GO:0072001 9.69 TBX18 BMP4
49 forelimb morphogenesis GO:0035136 9.69 TBX5 TBX3
50 organ induction GO:0001759 9.69 FGF10 BMP4

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.24 VRTN TBX6 TBX5 TBX4 TBX3 TBX22
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.17 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
3 DNA-binding transcription factor activity GO:0003700 10.1 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10.01 TBX5 TBX3 TBX20 TBX2 TBX19 TBX15
5 sequence-specific DNA binding GO:0043565 10 VRTN TBX5 TBX3 TBX2 TBX1 NKX2-5
6 RNA polymerase II activating transcription factor binding GO:0001102 9.93 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
7 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.91 VRTN TBX3 TBX22 TBX2 TBX18 TBX15
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.77 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
9 RNA polymerase II transcription factor binding GO:0001085 9.65 TBX6 TBX3 TBX20
10 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.47 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
Sources

Sources for Ulnar-Mammary Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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